Canonical Allele Identifier: CA2635783534
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224129-ACCCTCTTC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224133_7224140del , CM000679.2:g.7224133_7224140del GRCh38
NC_000017.10:g.7127452_7127459del , CM000679.1:g.7127452_7127459del GRCh37
NC_000017.9:g.7068176_7068183del NCBI36
NG_007975.1:g.9300_9307del
NG_008391.2:g.914_921del
NG_033038.1:g.15408_15415del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1435-13_1435-6del MANE Select ENSP00000349297.5:n.1435-13_1435-6del
ENST00000322910.9:c.*1390-13_*1390-6del ENSP00000325395.5:n.*1390-13_*1390-6del
ENST00000350303.9:c.1369-13_1369-6del ENSP00000344152.5:n.1369-13_1369-6del
ENST00000356839.9:c.1435-13_1435-6del ENSP00000349297.5:n.1435-13_1435-6del
ENST00000542255.6:c.293-13_293-6del
ENST00000543245.6:c.1504-13_1504-6del ENSP00000438689.2:n.1504-13_1504-6del
ENST00000578711.1:n.629_636del
ENST00000579391.1:n.30_37del
ENST00000579425.5:n.551-13_551-6del
ENST00000579546.1:c.271+64_271+71del
ENST00000579894.5:n.209_216del
ENST00000583074.5:n.153+64_153+71del
ENST00000583850.5:n.210-13_210-6del
ENST00000583858.5:c.463+64_463+71del
ENST00000585203.6:n.626-13_626-6del
NM_000018.3:c.1435-13_1435-6del NP_000009.1:n.1435-13_1435-6del
NM_001033859.2:c.1369-13_1369-6del NP_001029031.1:n.1369-13_1369-6del
NM_001270447.1:c.1504-13_1504-6del NP_001257376.1:n.1504-13_1504-6del
NM_001270448.1:c.1207-13_1207-6del NP_001257377.1:n.1207-13_1207-6del
XM_006721516.2:c.1435-13_1435-6del XP_006721579.2:n.1435-13_1435-6del
XM_011523829.1:c.1434+64_1434+71del XP_011522131.1:n.1434+64_1434+71del
XM_011523830.1:c.1434+64_1434+71del XP_011522132.1:n.1434+64_1434+71del
XR_934021.1:n.1542-13_1542-6del
XR_934022.1:n.1541+64_1541+71del
XR_934023.1:n.1541+64_1541+71del
XM_006721516.3:c.1435-13_1435-6del XP_006721579.2:n.1435-13_1435-6del
XM_011523829.2:c.1434+64_1434+71del XP_011522131.1:n.1434+64_1434+71del
XM_011523830.2:c.1434+64_1434+71del XP_011522132.1:n.1434+64_1434+71del
XM_024450741.1:c.1434+64_1434+71del XP_024306509.1:n.1434+64_1434+71del
XR_934021.2:n.1494-13_1494-6del
XR_934022.2:n.1493+64_1493+71del
XR_934023.2:n.1493+64_1493+71del
NM_000018.4:c.1435-13_1435-6del MANE Select NP_000009.1:n.1435-13_1435-6del
NM_001033859.3:c.1369-13_1369-6del NP_001029031.1:n.1369-13_1369-6del
NM_001270447.2:c.1504-13_1504-6del NP_001257376.1:n.1504-13_1504-6del
NM_001270448.2:c.1207-13_1207-6del NP_001257377.1:n.1207-13_1207-6del
Search 100 bp 5'
Search 100 bp 3'